Canonical Allele Identifier: CA1715736
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3176418
ClinVar RCV Id: RCV004472294
dbSNP Id: rs747431825
gnomAD v2: 2-73868452-G-T
gnomAD v4: 2-73641325-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641325G>T , CM000664.2:g.73641325G>T GRCh38
NC_000002.11:g.73868452G>T , CM000664.1:g.73868452G>T GRCh37
NC_000002.10:g.73721960G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.304C>A (NAT8) MANE Select ENSP00000272425.3:p.Leu102Met
ENST00000652439.1:n.243G>T (ALMS1P1)
ENST00000272425.3:c.304C>A (NAT8) ENSP00000272425.3:p.Leu102Met
NM_003960.3:c.304C>A (NAT8) NP_003951.3:p.Leu102Met
NM_003960.4:c.304C>A (NAT8) MANE Select NP_003951.3:p.Leu102Met